Zobrazeno 1 - 6
of 6
pro vyhledávání: '"MESH: Leukoencephalopathies"'
Autor:
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot‐Bastaraud, Marie‐France Portnoï, Marie‐Christine Nouguès, Marie‐Laure Moutard, Anne Faudet, Sandra Whalen, Damien Haye, Catherine Garel, Nicolas Chatron, Massimiliano Rossi, Catherine Vincent‐Delorme, Odile Boute, Bruno Delobel, Joris Andrieux, Françoise Devillard, Charles Coutton, Jacques Puechberty, Céline Pebrel‐Richard, Cindy Colson, Marion Gerard, Chantal Missirian, Sabine Sigaudy, Tiffany Busa, Martine Doco‐Fenzy, Valérie Malan, Marlène Rio, Bérénice Doray, Damien Sanlaville, Jean‐Pierre Siffroi, Delphine Héron, Solveig Heide
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
International audience; Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2105f721b0cce4c780286d83238add0
https://pubmed.ncbi.nlm.nih.gov/34866188
https://pubmed.ncbi.nlm.nih.gov/34866188
Autor:
Pelissou, Coralie
Publikováno v:
Médecine humaine et pathologie. 2019
Introduction : les hypersignaux péri-ventriculaires (HSPV) sont très souvent retrouvés dans l’hydrocéphalie chronique idiopathique (HCI) et seraient la combinaison d’une résorption transépendymaire et d’une leucopathie microvasculaire (LM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2592::38174902dc8cbb5a9a19f3ba1f2cbd2c
https://dumas.ccsd.cnrs.fr/dumas-02990607/file/ThExe_PELISSOU_Coralie_DUMAS.pdf
https://dumas.ccsd.cnrs.fr/dumas-02990607/file/ThExe_PELISSOU_Coralie_DUMAS.pdf
Autor:
Sinda Zarrouk-Mahjoub, Josef Finsterer
Publikováno v:
Metabolic Brain Disease
Metabolic Brain Disease, Springer Verlag, 2018, 33 (5), pp.1389-1390. ⟨10.1007/s11011-018-0253-z⟩
Metabolic Brain Disease, Springer Verlag, 2018, 33 (5), pp.1389-1390. ⟨10.1007/s11011-018-0253-z⟩
International audience; Letter to the EditorComment on : Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. [Metab Brain Dis. 2018]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa0e99583dfa2f9477f2964d1c85349
https://hal-riip.archives-ouvertes.fr/pasteur-02009056
https://hal-riip.archives-ouvertes.fr/pasteur-02009056
Autor:
Catherine Florentz, Marie Sissler, Gert C. Scheper, Agnès Gaudry, Marjo S. van der Knaap, Laura van Berge, Josta T. Kevenaar, Emiel Polder
Publikováno v:
Biochemical Journal, 450, 345-350. Portland Press Ltd.
Biochemical Journal
Biochemical Journal, Portland Press, 2013, 450 (2), pp.345-350. ⟨10.1042/BJ20121564⟩
van Berge, L, Kevenaar, J, Polder, E, Gaudry, A, Florentz, C, Sissler, M, van der Knaap, M S & Scheper, G C 2013, ' Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways ', Biochemical Journal, vol. 450, pp. 345-350 . https://doi.org/10.1042/BJ20121564
Biochemical journal, 450(2), 345-350. Portland Press Ltd.
Biochemical Journal
Biochemical Journal, Portland Press, 2013, 450 (2), pp.345-350. ⟨10.1042/BJ20121564⟩
van Berge, L, Kevenaar, J, Polder, E, Gaudry, A, Florentz, C, Sissler, M, van der Knaap, M S & Scheper, G C 2013, ' Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways ', Biochemical Journal, vol. 450, pp. 345-350 . https://doi.org/10.1042/BJ20121564
Biochemical journal, 450(2), 345-350. Portland Press Ltd.
International audience; The autosomal recessive white matter disorder LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is caused by mutations in DARS2, coding for mtAspRS (mitochondrial aspartyl-tRNA synthe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bda7f48fc597a290f363fdfcfebc0761
https://doi.org/10.1042/bj20121564
https://doi.org/10.1042/bj20121564
Autor:
Liraz Kantor, Anne Fogli, Orna Elroy-Stein, Raphael Schiffmann, Odile Boespflug-Tanguy, Laetitia Horzinski, Aurélia Huyghe
Publikováno v:
BMC Neurology
BMC Neurology, 2010, 10 (1), pp.94. ⟨10.1186/1471-2377-10-94⟩
BMC Neurology, BioMed Central, 2010, 10 (1), pp.94. ⟨10.1186/1471-2377-10-94⟩
BMC Neurology, Vol 10, Iss 1, p 94 (2010)
BMC Neurology, 2010, 10 (1), pp.94. ⟨10.1186/1471-2377-10-94⟩
BMC Neurology, BioMed Central, 2010, 10 (1), pp.94. ⟨10.1186/1471-2377-10-94⟩
BMC Neurology, Vol 10, Iss 1, p 94 (2010)
Background Eukaryotic translation initiation factor 2B (eIF2B), a guanine nucleotide exchange factor (GEF) and a key regulator of translation initiation under normal and stress conditions, causes an autosomal recessive leukodystrophy of a wide clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e66913812385bc2a2394a0769037648c
https://doi.org/10.1186/1471-2377-10-94
https://doi.org/10.1186/1471-2377-10-94
Publikováno v:
Gastroentérologie Clinique et Biologique
Gastroentérologie Clinique et Biologique, 2010, 34 (1), pp.29-34. ⟨10.1016/j.gcb.2009.07.036⟩
Gastroentérologie Clinique et Biologique, 2010, 34 (1), pp.29-34. ⟨10.1016/j.gcb.2009.07.036⟩
Resume La leucoencephalopathie posterieure reversible au tacrolimus est une complication rare necessitant d’etre connue des medecins utilisant regulierement les traitements immunosuppresseurs. Nous rapportons le cas d’un patient transplante hepat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f0fdf271b0d5b6c17ab0c19328f648
https://hal.archives-ouvertes.fr/hal-03149197
https://hal.archives-ouvertes.fr/hal-03149197